Article

Road to A Rare Diagnosis: A Case Report Exploring Phenotype, Clinical Management and Outcome of a Rare and Novel Unbalanced Translocation causing complete Trisomy 17p

2021-12-13

Abstract excerpt

<h4>Background: </h4> Trisomy 17 is a rare chromosomal disorder with limited existing literature that mostly refer to mosaic Trisomy 17 cases. Our report summarizes the clinical course of a neonate with a Trisomy 17 karyotype der (14;17) (q10; p10), + 17 pat. Key words: Trisomy 17, Unbalanced translocation, Paternal origin

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Literature Corpus work: 88d77634-2b05-5f28-bf29-2b2ea01a6486
DOI: 10.22541/au.163937560.03582713/v1

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